|
KMID : 0860920190210010007
|
|
Journal of the Korean Association EMG-Electrodiagnostic Medicine
2019 Volume.21 No. 1 p.7 ~ p.11
|
|
|
Limb-Girdle Muscular Dystrophy Type 2A (Calpainopathy) with Axial Muscle Weakness Mimicking Spondyloarthropathy: A Case Report
|
|
Kwon Sa-Ra
Kim Dae-Yul
|
|
|
Abstract
|
|
|
|
Limb-girdle muscular dystrophy (LGMD) is a hereditary myopathy characterized by weakness and wasting of pelvic girdle musculature. Herein, we report the case of a 51-year-old man with an unremarkable past medical history who presented with insidious onset of weakness in his back and proximal lower extremities. Clinical findings and electrodiagnostic tests were consistent with myopathy. Exome sequencing detected a mutation in calpain-3 (CAPN3), which confirmed the diagnosis of LGMD 2A. Through a review of less typical case of LGMD 2A, we confirmed that the severity and onset of symptoms may vary according to the quantity of CAPN3 expressed in patients with mutations in CAPN3.
|
|
|
KEYWORD
|
|
|
limb-girdle muscular dystrophy, limb-girdle muscular dystrophy type 2A, calpainopathy
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|